ClinVar for Gene (Select 28988) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3499793	NM_001014436.3(DBNL):c.883A>G (p.Thr295Ala)	DBNL (T201A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3499792	NM_001014436.3(DBNL):c.821C>T (p.Ser274Phe)	DBNL (S171F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3499791	NM_001014436.3(DBNL):c.521T>C (p.Val174Ala)	DBNL (V71A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3499790	NM_001014436.3(DBNL):c.359A>G (p.Glu120Gly)	DBNL (E17G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3499789	NM_001014436.3(DBNL):c.193G>A (p.Ala65Thr)	DBNL (A65T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3499787	NM_001014436.3(DBNL):c.656G>A (p.Arg219His)	DBNL (R116H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3499786	NM_001014436.3(DBNL):c.1021G>A (p.Glu341Lys)	DBNL (E342K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3417263	NM_000290.4(PGAM2):c.358G>A (p.Asp120Asn)	DBNL, LOC129998342 +1 more (D120N)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3417262	NM_000290.4(PGAM2):c.248G>A (p.Arg83His)	DBNL, LOC129998343 +1 more (R83H)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3417261	NM_000290.4(PGAM2):c.556C>T (p.His186Tyr)	DBNL, PGAM2 (H186Y)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3379752	NM_000290.4(PGAM2):c.635C>T (p.Thr212Met)	DBNL, PGAM2 (T212M)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3351694	NM_000290.4(PGAM2):c.357C>T (p.Phe119=)	DBNL, LOC129998342 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	PGAM2-related disorder	GLikely benign
Select item 3305924	NM_000290.4(PGAM2):c.427G>C (p.Ala143Pro)	DBNL, PGAM2 (A143P)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3305923	NM_000290.4(PGAM2):c.334G>A (p.Val112Met)	DBNL, LOC129998342 +1 more (V112M)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3270927	NM_001014436.3(DBNL):c.445T>C (p.Phe149Leu)	DBNL (F149L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245902	NC_000007.13:g.(?_43810758)_(45977174_?)del	ADCY1, AEBP1 +31 more	Deletion	not provided	GUncertain significance
Select item 3211627	NM_000290.4(PGAM2):c.313G>A (p.Ala105Thr)	DBNL, PGAM2 (A105T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3211626	NM_000290.4(PGAM2):c.281G>A (p.Gly94Asp)	DBNL, PGAM2 (G94D)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3211625	NM_000290.4(PGAM2):c.192C>G (p.Ile64Met)	DBNL, PGAM2 (I64M)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080204	NM_001014436.3(DBNL):c.953C>T (p.Ala318Val)	DBNL (A215V +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3080203	NM_001014436.3(DBNL):c.901C>G (p.Pro301Ala)	DBNL (P309A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080202	NM_001014436.3(DBNL):c.754-11C>T	DBNL (A256V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080201	NM_001014436.3(DBNL):c.656G>T (p.Arg219Leu)	DBNL (R124L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3080200	NM_001014436.3(DBNL):c.988G>C (p.Glu330Gln)	DBNL (E338Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080199	NM_001014436.3(DBNL):c.976G>A (p.Val326Met)	DBNL (V326M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053583	NM_000290.4(PGAM2):c.45A>T (p.Thr15=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	PGAM2-related disorder	GLikely benign
Select item 3024739	NM_001014436.3(DBNL):c.957C>T (p.Pro319=)	DBNL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000078	NM_000290.4(PGAM2):c.201C>T (p.Leu67=)	DBNL, LOC129998343 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2991153	NM_000290.4(PGAM2):c.393C>T (p.Pro131=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2959446	NM_000290.4(PGAM2):c.321C>T (p.His107=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2914890	NM_000290.4(PGAM2):c.81T>C (p.Asp27=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2906793	NM_000290.4(PGAM2):c.63T>C (p.Arg21=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2875870	NM_000290.4(PGAM2):c.684G>A (p.Lys228=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2844065	NM_000290.4(PGAM2):c.372C>A (p.Pro124=)	DBNL, LOC129998342 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2801963	NM_000290.4(PGAM2):c.300G>A (p.Lys100=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2792686	NM_000290.4(PGAM2):c.173C>G (p.Ser58Ter)	DBNL, PGAM2 (S58*)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GPathogenic
Select item 2755621	NM_000290.4(PGAM2):c.442G>C (p.Gly148Arg)	DBNL, PGAM2 (G148R)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2719100	NM_000290.4(PGAM2):c.415-12T>G	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2713140	NM_000290.4(PGAM2):c.33C>T (p.His11=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2711989	NM_000290.4(PGAM2):c.330G>A (p.Glu110=)	DBNL, LOC129998342 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2685239	GRCh37/hg19 7p14.1-12.3(chr7:42516660-46202495)x1	ADCY1, AEBP1 +38 more	Copy number loss	not provided	GPathogenic
Select item 2681483	NM_000290.4(PGAM2):c.59A>G (p.Asn20Ser)	DBNL, PGAM2 (N20S)	Single nucleotide variant (3 prime UTR variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2657418	NM_001014436.3(DBNL):c.707C>T (p.Thr236Met)	DBNL (T133M +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2657417	NM_001014436.3(DBNL):c.123C>T (p.Arg41=)	DBNL (A9V)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2635672	NM_000290.4(PGAM2):c.427G>A (p.Ala143Thr)	PGAM2, DBNL (A143T)	Single nucleotide variant (3 prime UTR variant +1 more)	PGAM2-related disorder +1 more	GUncertain significance
Select item 2609483	NM_001014436.3(DBNL):c.1022A>C (p.Glu341Ala)	DBNL (E247A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606924	NM_001014436.3(DBNL):c.702G>C (p.Gln234His)	DBNL (Q139H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593231	NM_001014436.3(DBNL):c.884C>G (p.Thr295Ser)	DBNL (T295S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550747	NM_001014436.3(DBNL):c.467C>A (p.Ala156Asp)	DBNL (A53D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530082	NM_000290.4(PGAM2):c.463A>C (p.Ser155Arg)	DBNL, PGAM2 (S155R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511173	NM_001014436.3(DBNL):c.1061G>C (p.Gly354Ala)	DBNL (G355A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496092	NM_000290.4(PGAM2):c.482C>T (p.Ala161Val)	DBNL, LOC129998341 +1 more (A161V)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492839	NM_001014436.3(DBNL):c.1216G>A (p.Glu406Lys)	DBNL (E414K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487596	NM_001014436.3(DBNL):c.1132G>T (p.Ala378Ser)	DBNL (A284S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470760	NM_001014436.3(DBNL):c.743G>A (p.Arg248Gln)	DBNL (R154Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464404	NM_001014436.3(DBNL):c.634C>T (p.Arg212Cys)	DBNL (R117C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2434672	NM_000290.4(PGAM2):c.485G>C (p.Arg162Pro)	LOC129998341, PGAM2 +1 more (R162P)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2434671	NM_000290.4(PGAM2):c.382G>A (p.Glu128Lys)	DBNL, PGAM2 (E128K)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +1 more	GUncertain significance
Select item 2427882	NM_000290.4(PGAM2):c.596-8C>T	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2423978	NC_000007.13:g.(?_43810758)_(44747598_?)del	AEBP1, BLVRA +17 more	Deletion	not provided	GUncertain significance
Select item 2415007	NM_000290.4(PGAM2):c.431G>A (p.Gly144Asp)	DBNL, PGAM2 (G144D)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2400801	NM_001014436.3(DBNL):c.595G>A (p.Glu199Lys)	DBNL (E199K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391300	NM_001014436.3(DBNL):c.950C>T (p.Pro317Leu)	DBNL (P214L +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2375709	NM_001014436.3(DBNL):c.670T>C (p.Tyr224His)	DBNL (Y224H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341976	NM_001014436.3(DBNL):c.658C>T (p.Arg220Trp)	DBNL (R117W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325519	NM_001014436.3(DBNL):c.569G>A (p.Arg190His)	DBNL (R190H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321702	NM_000290.4(PGAM2):c.718C>G (p.Arg240Gly)	DBNL, PGAM2 (R240G)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321542	NM_000290.4(PGAM2):c.368C>T (p.Pro123Leu)	DBNL, LOC129998342 +1 more (P123L)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +1 more	GUncertain significance
Select item 2291055	NM_001014436.3(DBNL):c.589C>T (p.Arg197Trp)	DBNL (R94W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286526	NM_001014436.3(DBNL):c.754-15T>C	DBNL (C256R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285292	NM_001014436.3(DBNL):c.120C>G (p.Ile40Met)	DBNL (I40M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284882	NM_000290.4(PGAM2):c.578T>C (p.Ile193Thr)	DBNL, PGAM2 (I193T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2280432	NM_001014436.3(DBNL):c.457G>C (p.Gly153Arg)	DBNL (G153R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279770	NM_000290.4(PGAM2):c.318G>C (p.Lys106Asn)	DBNL, PGAM2 (K106N)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267349	NM_000290.4(PGAM2):c.184C>T (p.Arg62Trp)	DBNL, PGAM2 (R62W)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262445	NM_001014436.3(DBNL):c.1079T>C (p.Ile360Thr)	DBNL (I266T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244547	NM_000290.4(PGAM2):c.321C>G (p.His107Gln)	DBNL, PGAM2 (H107Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2214185	NM_001014436.3(DBNL):c.1039C>A (p.Pro347Thr)	DBNL (P253T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205716	NM_001014436.3(DBNL):c.629G>A (p.Arg210Gln)	DBNL (R107Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2194940	NM_000290.4(PGAM2):c.422G>A (p.Arg141Gln)	DBNL, PGAM2 (R141Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2194002	NM_000290.4(PGAM2):c.342C>T (p.Ile114=)	DBNL, LOC129998342 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2191895	NM_000290.4(PGAM2):c.596-17T>C	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2184874	NM_000290.4(PGAM2):c.720G>C (p.Arg240=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2184837	NM_000290.4(PGAM2):c.14G>A (p.Arg5His)	DBNL, PGAM2 (R5H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2184369	NM_000290.4(PGAM2):c.505G>A (p.Glu169Lys)	DBNL, LOC129998341 +1 more (E169K)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2182447	NM_000290.4(PGAM2):c.441C>T (p.Pro147=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +1 more	GLikely benign
Select item 2179816	NM_000290.4(PGAM2):c.170C>T (p.Thr57Met)	DBNL, PGAM2 (T57M)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +1 more	GUncertain significance
Select item 2173720	NM_000290.4(PGAM2):c.70G>A (p.Gly24Ser)	DBNL, PGAM2 (G24S)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2173394	NM_000290.4(PGAM2):c.419G>A (p.Arg140His)	DBNL, PGAM2 (R140H)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2168327	NM_000290.4(PGAM2):c.221C>T (p.Thr74Met)	DBNL, LOC129998343 +1 more (T74M)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2161014	NM_000290.4(PGAM2):c.136A>G (p.Lys46Glu)	DBNL, PGAM2 (K46E)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2160937	NM_000290.4(PGAM2):c.251C>G (p.Thr84Ser)	DBNL, LOC129998343 +1 more (T84S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2160629	NM_000290.4(PGAM2):c.193C>T (p.Arg65Cys)	DBNL, PGAM2 (R65C)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2158095	NM_000290.4(PGAM2):c.155T>C (p.Phe52Ser)	DBNL, PGAM2 (F52S)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2146515	NM_000290.4(PGAM2):c.595+3G>T	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2145181	NM_000290.4(PGAM2):c.369G>A (p.Pro123=)	DBNL, LOC129998342 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2143015	NM_000290.4(PGAM2):c.13C>T (p.Arg5Cys)	DBNL, PGAM2 (R5C)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2140958	NM_000290.4(PGAM2):c.485G>A (p.Arg162Gln)	DBNL, LOC129998341 +1 more (R162Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +1 more	GUncertain significance
Select item 2140727	NM_000290.4(PGAM2):c.414+9C>T	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2136504	NM_000290.4(PGAM2):c.29G>A (p.Arg10Gln)	DBNL, PGAM2 (R10Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance

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